(ISSN 2577-5790)
OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes a variety of article types (Original Research, Review, Communication, Opinion, Comment, Conference Report, Technical Note, Book Review, etc.). There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.
Publication Speed (median values for papers published in 2023): Submission to First Decision: 5.1 weeks; Submission to Acceptance: 17.0 weeks; Acceptance to Publication: 7 days (1-2 days of FREE language polishing included)
Special Issue
Mosaicism and Chimerism
Submission Deadline: December 31, 2023 (Open) Submit Now
Guest Editors
Ying S. Zou, MD, PhD, FACMG
Director of Cancer Genetics Laboratory, Johns Hopkins Hospital, Co-Director of Cytogenomics Laboratory, Associate Director of Molecular Diagnostic Laboratory, and Associate Professor, Department of Genetic Medicine and Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Research Interests: genomics; molecular diagnostics; cytogenomics; cancer genetics; chromosomal structure abnormalities; telomere biology and ageing
Jaclyn Murry, PhD, Assistant Professor
Co-Director, Cytogenomics Laboratory, Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Research interests: cytogenetics; cytogenomics; newborn screening, congenital disorders
About the topic:
Mosaicism has been well-studied in the context of the consequences of early development, especially in its role in understanding how genetic variations can lead to human disease, whether it is gross chromosomal aberrations (numerical or structural) or point mutations, etc. An example is mosaic Down syndrome, but other commonly encountered aneuploidies may be compatible with life at lower levels. Another consideration is whether a structurally abnormal chromosome could lead to mitotic nondisjunction/anaphase lag (loss) and result in multiple lines in a single individual. In the prenatal community, the concept of confined placental mosaicism is well-known. With the use of non-invasive prenatal screening, could a placental sampling reveal the possibility of pseudopartial moles, a rare phenomenon of placental mesenchymal dysplasia, leading to intrauterine growth restriction and an otherwise healthy fetus? There is another phenomenon, mixoploidy, whereby the presence of one genomic aberration may be permissive of another chromosomal aberration (such as triploidy and trisomy or dual trisomy). Other forms of genetic variation could also be subject to mosaicism: copy number changes, and even epigenetic changes. Even so, there are some individuals whose cryptic mosaicism may not be recognized and may escape clinical ascertainment.
Similarly, natural chimerism has been studied and thought to be rare. However, this association is dependent on sex-mismatch and may be missed in the context of female-female pairs by classic cytogenetic methods. In vitro fertilization (IVF) conception and multiple embryo transfer has been suggested to promote cell absorption events; twin to twin transfusion is another way in which this scenario could occur. The advent and availability of more sensitive molecular techniques may allow for more subtle and unusual, even unknown, twin pairs to be detected, which may have implications for treatment, identity testing, and even forensic testing.
Somatic mosaicism has been studied in the context of cancers, with some specific gross chromosomal numerical aberrations (aneuploidies) being associated with age, rather than suggestive of underlying disease. More recently, a phenomenon of clonal aberrations at the mutation level in described older individuals in the hematopoietic compartment, and must be correlated with morphological and cellular characteristics to determine its significance, if any.
Keywords:
aneuploidy; chimerism; chromosomal aberration; confined placental mosaicism; epigenetic changes; genetic variation; in vitro fertilization conception; mitotic nondisjunction/anaphase lag; mixoploidy; mosaic Down syndrome; mutation; numerical chromosome aberration; pseudopartial moles; structural chromosome aberration; triploid; trisomy; twin to twin transfusion
Manuscript Submission Information
Manuscripts should be submitted through the LIDSEN Submission System. Detailed information on manuscript preparation and submission is available in the Instructions for Authors. All submitted articles will be thoroughly refereed through a single-blind peer-review process and will be processed following the Editorial Process and Quality Control policy. Upon acceptance, the article will be immediately published in a regular issue of the journal and will be listed together on the special issue website, with a label that the article belongs to the Special Issue. LIDSEN distributes articles under the Creative Commons Attribution (CC BY 4.0) License in an open-access model. The authors own the copyright to the article, and the article can be free to access, distribute, and reuse provided that the original work is correctly cited.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). Research articles and review articles are highly invited. Authors are encouraged to send the tentative title and abstract of the planned paper to the Editorial Office (genetics@lidsen.com) for record. If you have any questions, please do not hesitate to contact the Editorial Office.
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Publication
Mosaic Potocki-Lupski Syndrome Due to a Supernumerary Marker Chromosome Containing RAI1Abstract Potocki-Lupski syndrome (PTLS) is a recurrent microduplication syndrome characterized by developmental delay, behavioral abnormalities, mildly dysmorphic facial features, hypotonia, and sleep disorders. We report here a 3-year-old girl diagnosed with mosaic PTLS harboring a supernumerary marker chromosome containin [...] |
Live-Born Double Aneuploidy at the Johns Hopkins Cytogenomics Laboratory: Case Report and Review of the Literatureby
Jaclyn B. Murry
and
Ying S. Zou
Abstract Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within the same individual. Genomic imbalance associated with two aneuploidies in humans is associated with early lethality, and observation in live-born humans is rare. In isolation, trisomy of chromosomes 13, 18, 21, X, and Y may be better tolerated, whereas [...] |
Trisomy 14 Mosaicism Including Concomitant Uniparental Disomy: Population Frequency, Cytogenetic Profile, Sex Ratio, Maternal Age and Obstetric HistoryAbstract Mosaicism for trisomy of chromosome 14 (T14) is a very rare chromosomal disease in liveborn patients. Since the 1970s, when the first patients with mosaicism for T14 were reported, a number of studies on the clinical manifestations of this abnormality have been published. No information on epidemiological parameters was known except for the [...] |
46,XX/46,XY Chimerism & Human Sexual DevelopmentAbstract The term chimera refers to an organism with cell lines from two or more distinct zygotes. Human chimerism may occur naturally or artificially. Although rare, advancements in genetics and genomics have resulted in the identification of additional natural human chimeras. Three forms of naturally occurring chimerism have been documented in humans [...] |
| 2023 |  |
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| CiteScore | SJR | SNIP |
| 0.4 | 0.160 | 0.093 |
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Vidhi is a Clinical yoga therapist; mentor for yoga therapy training in Krishnamacharya tradition. She holds a MSc in Public health from Kings College London.
Mirela Olympia Fagarasan Palmer
Luigi Fontana, MD, PhD.jpg)
Zhong-Ting (Justin) is a PhD student from Nanyang Technological University (Singapore). He holds BSc in Applied Chemistry and MSc in Environmental Engineering. He was a R&D researcher of NanoMaterials Technology Pte Ltd in Singapore (2006-2012). His current research interests are functional nanomaterials synthesis & design, and their application into environmental/chemical engineering. He has published near 60 SCI papers in Applied Catalysis B, Chemical Engineering Journal and so on with H-Index 23. He also serviced as reviewers over 40 Journals such as Appl. Catal. B, Water Research, Chem. Eng. J, ACS Applied Materials & Interface, etc. He was honored such as “The Bsic Research Achievment 1st Award of CIESC”, “The ZJUT Fund Breeding Distinguished Young Scholars” etc.
Rolf Teschke studied Medicine in Munich and Marburg, where he finished his MD thesis before starting a residency at the Department of Pathology, University of Marburg. Subsequently and with a fellowship of the Deutsche Forschungsgmeinschaft, he worked at the Bronx VA Hospital/Mount Sinai Hospital in New York during 1972–1975 together with Professor Charles S. Lieber and successfully isolated MEOS and expanded its characterization. Back in Germany, he was at the Heinrich-Heine University in Düsseldorf with a focus on alcoholic liver disease, biochemical drug studies, and clinical intoxications by halogenated aliphatic hydrocarbons, where he became a Professor of Medicine. In 1987, he was offered a chief position and appointed as Director of the Medical Department II, City Hospital Hanau, Teaching Hospital of the Johann Wolfgang Goethe University Frankfurt/Main. His clinical and research interests are on liver injury by drugs and herbs including causality assessment by RUCAM in close association with Dr. Gaby Danan in Paris. A perfect cooperation exists also with Professor Tran Dang Xuan of the University of Hiroshima, Japan. Finally, he is the author of more than 275 publications including books and book chapters, and he is editor in chief of scientific journals and member of editorial boards.